Mutagenetix > Incidental Mutation

Incidental Mutation 'R8070:Or2y14'

620248

Institutional Source

Beutler Lab

Gene Symbol

Or2y14

Ensembl Gene

ENSMUSG00000044170

Gene Name

olfactory receptor family 2 subfamily Y member 14

Synonyms

Olfr1384, MOR256-23, GA_x6K02T2QP88-5922712-5921756

MMRRC Submission

067505-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R8070 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

49404445-49405478 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 49404941 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 159 (T159S)

Ref Sequence

ENSEMBL: ENSMUSP00000149183 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060434] [ENSMUST00000213776]

AlphaFold

Q8VFA8

Predicted Effect

probably damaging
Transcript: ENSMUST00000060434
AA Change: T159S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000051954
Gene: ENSMUSG00000044170
AA Change: T159S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	306	6.9e-48	PFAM
Pfam:7TM_GPCR_Srsx	34	161	4.3e-6	PFAM
Pfam:7tm_1	40	313	2.7e-22	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213776
AA Change: T159S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

MGI Phenotype

FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	A	G	5: 64,055,510 (GRCm39)	E82G	probably benign	Het
9830107B12Rik	A	G	17: 48,452,681 (GRCm39)	F86S	probably damaging	Het
Aamdc	A	T	7: 97,224,855 (GRCm39)	Y2*	probably null	Het
Acta1	T	A	8: 124,620,360 (GRCm39)	D26V	possibly damaging	Het
Adra1d	A	C	2: 131,403,502 (GRCm39)	L196R	probably damaging	Het
Agbl2	G	A	2: 90,621,909 (GRCm39)	C132Y	probably benign	Het
Amd1	A	G	10: 40,170,226 (GRCm39)	V92A	probably benign	Het
Arid4b	T	A	13: 14,310,844 (GRCm39)	I149K	probably benign	Het
Atg7	A	G	6: 114,674,041 (GRCm39)	M312V	probably benign	Het
Bap1	T	A	14: 30,978,643 (GRCm39)	V381E	probably damaging	Het
Cbfa2t3	C	T	8: 123,369,720 (GRCm39)	V207I	possibly damaging	Het
Cdh24	T	C	14: 54,870,030 (GRCm39)	Q629R	probably benign	Het
Cdhr2	G	T	13: 54,867,606 (GRCm39)	V479L	probably benign	Het
Chd2	A	G	7: 73,101,506 (GRCm39)	S1407P	probably benign	Het
Clstn2	A	G	9: 97,681,523 (GRCm39)	V39A	possibly damaging	Het
Cwh43	T	A	5: 73,578,806 (GRCm39)	M357K	possibly damaging	Het
Dcdc2a	T	A	13: 25,386,180 (GRCm39)	D351E	probably benign	Het
Dennd6b	T	C	15: 89,069,576 (GRCm39)	I517V	probably benign	Het
Dnah17	T	C	11: 117,915,497 (GRCm39)	E4374G	probably damaging	Het
Emsy	A	G	7: 98,275,922 (GRCm39)	S336P	possibly damaging	Het
Enoph1	A	T	5: 100,208,841 (GRCm39)	E65D	probably benign	Het
Fam83f	T	A	15: 80,556,281 (GRCm39)	L55Q	probably damaging	Het
Fry	T	C	5: 150,401,472 (GRCm39)	F379L		Het
Fscb	A	T	12: 64,521,382 (GRCm39)	M28K	probably benign	Het
Gas7	G	A	11: 67,574,260 (GRCm39)	V412M	probably damaging	Het
Gatad1	T	C	5: 3,693,540 (GRCm39)	R210G	probably benign	Het
Gcn1	T	A	5: 115,727,057 (GRCm39)	V638E	probably benign	Het
Ggt1	A	T	10: 75,414,733 (GRCm39)	I184F	probably damaging	Het
Gigyf2	A	G	1: 87,368,629 (GRCm39)	N1103S	probably benign	Het
Gm5592	G	A	7: 40,935,887 (GRCm39)	A130T	possibly damaging	Het
Gys2	T	C	6: 142,394,230 (GRCm39)		probably null	Het
Hmcn1	C	A	1: 150,525,743 (GRCm39)	E3327*	probably null	Het
Ighv1-36	C	T	12: 114,843,656 (GRCm39)	G68E	probably damaging	Het
Igkv6-32	G	A	6: 70,051,089 (GRCm39)	T89M	probably damaging	Het
Ipo7	A	G	7: 109,652,014 (GRCm39)	D931G	probably benign	Het
Jakmip1	A	G	5: 37,330,631 (GRCm39)	E437G	probably benign	Het
Lingo3	C	T	10: 80,671,955 (GRCm39)		probably benign	Het
Lnpep	A	G	17: 17,758,900 (GRCm39)	S815P	probably damaging	Het
Ly6a	T	C	15: 74,869,449 (GRCm39)	D2G	probably damaging	Het
Madd	C	A	2: 90,988,359 (GRCm39)	E1223*	probably null	Het
Mapk8ip3	A	T	17: 25,120,078 (GRCm39)		probably null	Het
Mecom	T	C	3: 30,033,987 (GRCm39)	E239G	probably damaging	Het
Mug1	T	C	6: 121,852,838 (GRCm39)	V889A	probably benign	Het
Myo18b	T	A	5: 112,938,986 (GRCm39)	N1675I	probably benign	Het
Ndrg4	T	C	8: 96,426,756 (GRCm39)	F50L	possibly damaging	Het
Ndst4	A	G	3: 125,508,293 (GRCm39)	Y286C	probably damaging	Het
Nrp2	C	T	1: 62,784,567 (GRCm39)	R239C	probably damaging	Het
Olfm3	A	G	3: 114,895,604 (GRCm39)	D195G	probably damaging	Het
Or4p21	G	T	2: 88,277,003 (GRCm39)	T93K	probably benign	Het
Pds5a	A	G	5: 65,809,741 (GRCm39)	L407P	possibly damaging	Het
Pgm2	A	G	5: 64,269,425 (GRCm39)	N504S	probably benign	Het
Plce1	A	G	19: 38,690,283 (GRCm39)	M656V	probably damaging	Het
Pou6f2	T	C	13: 18,414,209 (GRCm39)	T189A	unknown	Het
Ppp1r12b	T	C	1: 134,803,807 (GRCm39)	S451G	probably benign	Het
Prox1	T	G	1: 189,893,107 (GRCm39)	N446T	probably damaging	Het
Ralgapa2	T	A	2: 146,195,199 (GRCm39)	R1195S	probably damaging	Het
Rere	A	G	4: 150,701,832 (GRCm39)	D37G	probably damaging	Het
Tfip11	T	A	5: 112,482,796 (GRCm39)	M560K	possibly damaging	Het
Thop1	T	C	10: 80,915,320 (GRCm39)	V260A	probably damaging	Het
Tle6	A	G	10: 81,434,476 (GRCm39)	M41T	possibly damaging	Het
Trav13d-4	T	C	14: 53,995,249 (GRCm39)	S68P	possibly damaging	Het
Trim24	A	G	6: 37,934,661 (GRCm39)	N826S	probably damaging	Het
Tuba3a	T	C	6: 125,255,433 (GRCm39)	E414G	probably damaging	Het
Vmn2r78	A	G	7: 86,571,695 (GRCm39)	I502V	probably benign	Het
Vmn2r79	A	T	7: 86,651,336 (GRCm39)	Y245F	probably benign	Het

Other mutations in Or2y14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02212:Or2y14	APN	11	49,404,737 (GRCm39)	missense	probably damaging	0.98
IGL02972:Or2y14	APN	11	49,404,918 (GRCm39)	missense	probably damaging	1.00
R0157:Or2y14	UTSW	11	49,404,600 (GRCm39)	missense	probably damaging	1.00
R1106:Or2y14	UTSW	11	49,404,519 (GRCm39)	missense	probably damaging	1.00
R1213:Or2y14	UTSW	11	49,405,421 (GRCm39)	makesense	probably null
R3768:Or2y14	UTSW	11	49,404,600 (GRCm39)	missense	probably damaging	1.00
R4191:Or2y14	UTSW	11	49,404,639 (GRCm39)	missense	probably damaging	1.00
R4708:Or2y14	UTSW	11	49,405,216 (GRCm39)	nonsense	probably null
R5443:Or2y14	UTSW	11	49,405,262 (GRCm39)	missense	probably damaging	0.98
R5770:Or2y14	UTSW	11	49,405,419 (GRCm39)	missense	unknown
R6245:Or2y14	UTSW	11	49,404,992 (GRCm39)	missense	possibly damaging	0.94
R6336:Or2y14	UTSW	11	49,405,369 (GRCm39)	missense	probably damaging	0.99
R7652:Or2y14	UTSW	11	49,404,512 (GRCm39)	missense	probably damaging	1.00
R8147:Or2y14	UTSW	11	49,405,050 (GRCm39)	missense	probably benign	0.02
R9289:Or2y14	UTSW	11	49,404,635 (GRCm39)	missense	probably damaging	1.00
R9551:Or2y14	UTSW	11	49,404,942 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGTCTTTCCCGAGGTGATCAG -3'
(R):5'- GGTGCCTAGAATTAGTGCTACAGG -3'

Sequencing Primer
(F):5'- TTCCCGAGGTGATCAGACTATCAG -3'
(R):5'- CCTAGAATTAGTGCTACAGGACAGAC -3'

Posted On

2020-01-23